학술논문
'학술논문'
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Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J F A; Zwamborn, Ramona A J; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesús S; Povedano, Monica; Andersen, Peter M., 1962; Weber, Markus; Başak, Nazli A.; Shaw, Chris; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; van Es, Michael A.; van den Berg, Leonard H.; Al-Chalabi, Ammar; Veldink, Jan; Van Damme, Philip
Brain. 146(9):3760-3769
Academic Journal
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
van Rheenen, Wouter; van der Spek, Rick AA; Bakker, Mark K; van Vugt, Joke JFA; Hop, Paul J; Zwamborn, Ramona AJ; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs HP; van Eijk, Kristel R; Kooyman, Maarten; Byrne, Ross P; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Sendtner, Michael; Meyer, Thomas; Başak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D’Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H; Bell, Shaughn; Vourc’h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S; Assialioui, Abdelilah; Rojas-García, Ricardo; Dion, Patrick A; Ross, Jay P; Ludolph, Albert C; Weishaupt, Jochen H; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine AM; Saker-Delye, Safa; Wood, Nicholas W; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia
Nature Genetics. 53(12)
Adey, Brett N.; Cooper-Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Mora Pardina, Jesus S.; Povedano Panades, Mónica; Andersen, Peter M., 1962; Weber, Markus; Başak, Nazli A.; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; Vourc’h, Patrick; Dobson, Richard J. B.; Breen, Gerome; Al-Chalabi, Ammar; Jones, Ashley R.; Iacoangeli, Alfredo
Frontiers in Cellular Neuroscience. 17
Academic Journal
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Kars, M. Ece; Başak, A. Nazlı; Onat, O. Emre; Bilguvar, Kaya; Choi, Jungmin; Itan, Yuval; Çağlar, Caner; Palvadeau, Robin; Casanova, Jean-Laurent; Cooper, David N.; Stenson, Peter D.; Yavuz, Alper; Buluş, Hakan; Günel, Murat; Friedman, Jeffrey M.; Özçelik, Tayfun
Proceedings of the National Academy of Sciences of the United States of America, 2021 Sep 01. 118(36), 1-10.
Academic Journal
Brett N. Adey; Johnathan Cooper-Knock; Ahmad Al Khleifat; Isabella Fogh; Philip van Damme; Philippe Corcia; Philippe Couratier; Orla Hardiman; Russell McLaughlin; Marc Gotkine; Vivian Drory; Vincenzo Silani; Nicola Ticozzi; Jan H. Veldink; Leonard H. van den Berg; Mamede de Carvalho; Susana Pinto; Jesus S. Mora Pardina; Mónica Povedano Panades; Peter M. Andersen; Markus Weber; Nazli A. Başak; Christopher E. Shaw; Pamela J. Shaw; Karen E. Morrison; John E. Landers; Jonathan D. Glass; Patrick Vourc’h; Richard J. B. Dobson; Gerome Breen; Ammar Al-Chalabi; Ashley R. Jones; Alfredo Iacoangeli
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Academic Journal
Arzu Nazlı; Ahmet Naci Emecen; Özlem Oya Eren Kutlusoylu; Gökçen Ömeroğlu Şimşek; Ayliz Özgen Alpaydın; Başak Bayram; Özgür Appak; Belgin Ünal; Nur Yapar; Vildan Avkan Oğuz
Flora Infeksiyon Hastalıkları ve Klinik Mikrobiyoloji Dergisi, Vol 26, Iss 2, Pp 267-276 (2021)
Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
Academic Journal
Türk Nöroloji Dergisi, Vol 28, Iss 1, Pp 57-58 (2022)
Academic Journal
Dohrn MF; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Lone MA; Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.; Bayraktar E; Koç University, School of Medicine, Translational Medicine Research Center- NDAL, Istanbul, Turkey.; Oflazer P; Koç University, School of Medicine, Department of Neurology, Istanbul, Turkey.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.; Rose A; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.; Lyons M; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.; Gable K; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.; Dunn T; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.; Chen S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Danzi MC; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Synofzik M; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.; Nazlı Başak A; Koç University, School of Medicine, Translational Medicine Research Center- NDAL, Istanbul, Turkey.; Hornemann T; Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.; Zuchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA szuchner@med.miami.edu.
Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE
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